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Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome
Author(s) -
Wu Rina,
Legius Eric,
Robberecht Wim,
Dumoulin Monique,
Cassiman JeanJacques,
Fryns JeanPierre
Publication year - 1996
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1996)8:1<51::aid-humu7>3.0.co;2-s
Subject(s) - biology , neurofibromatosis , genetics , mutation , leopard , neurofibromatosis type 2 , neurofibromatosis type i , gene , zoology
Multiple lentigines (LEOPARD) syndrome has been delineated as an autosomal dominant disorder with lentigines, cardiac abnormalities, variable mental retardation, and typical craniofacial features as the most characteristic findings. LEOPARD syndrome shows a great clinical overlap with neurofibromatosis type 1 (NF1). In this report we describe a de novo missense mutation (M 1035R) in exon 18 of the NF1 gene in a young woman with a prior diagnosis of LEOPARD syndrome. We hypothesize that some patients now diagnosed with LEOPARD syndrome have in fact a mutation in the NF1 gene, whereas in other patients with LEOPARD syndrome, a different gene might be involved. © 1996 Wiley‐Liss, Inc.